Abstract
During our genetic research to find association between genetic defects and idiopathic male infertility, we found amongst 200 patients studied, a rare balanced reciprocal translocation between the short arm of chromosome X (p22.2) and the long arm of chromosome 9 (q31) in two infertile brothers. Our finding was confirmed by Fluorescence in Situ Hybridization (FISH). Microdeletion of the long arm of the Y chromosome was done for both brothers, and no microdeletion was found. A conventional cytogenetic study was done to their mother, revealed the existence of the same translocation, indicating that the translocation found in both brothers is inherited totally from the mother. These findings show clearly the important role of X-autosome translocation in causing Azoospermia and male infertility in male carriers.
Highlights
Infertility is a very common health problem, affecting approximately15-20% of couples trying to conceive [1]
Semen analysis for the patient and his brother has shown the absence of spermatozoa (Azoospermia)
We report a family with a rare case of a balanced X-9 translocation transmitted from the mother to her two sons, resulting in azoospermia and male infertility
Summary
Infertility is a very common health problem, affecting approximately15-20% of couples trying to conceive [1]. Genetic analysis revealed a variety of causes, mostly chromosome aberrations or mutations in functional genes [5]. Reciprocal translocations between a sex chromosome and an autosome have been reported sporadically in context of scanning male infertility [9,10,11]. We report a family with a rare balanced X-9 chromosome translocation.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
